National PXE Expertise Center

The National PXE Expertise Centre (LEP) is located at UMC Utrecht. The center has a multi-disciplinary team consisting of a specialist in internal medicine and vascular diseases, ophthalmologists, radiologists, a vascular surgeon, clinical geneticist and dermatologist. As a result of this unique form of cooperation, patients have access to all necessary expertise regarding this rare disease at one central location. Patients can undergo all necessary tests within a single day, and therefore have the clearest possible indication of any possible damage to their eyes, blood vessels and skin. Depending on the test findings, patients can receive preventative treatment that is geared to their own needs. The further objectives of the LEP include initiating scientific study aimed at improving the diagnosis and treatment of PXE patients.

Research

A major research project, the TEMP study, is currently being conducted into the treatment of PXE. The objective of the TEMP study to research the effectiveness of the bisphosphonate risedronate on patients with PXE. The implication of the TEMP study is that if treatment of PXE patients with bisphosphonate can lead to a stabilization or reduction of vascular mineralization, there may, for the first time, be hope that the progression of the disease can be slowed. If the bisphosphonate treatment proves effective, future studies will be aimed at demonstrating that early treatment may even be able to prevent clinical manifestation of the disease.

The results of this study are expected at the end of 2017. Research doctors also have other study proposals ready for implementation, which they unfortunately cannot carry out due to lack of funds